Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema, F Papadia… - Journal of medical …, 2007 - jmg.bmj.com
Background: Rubinstein–Taybi syndrome (RSTS) is a congenital disorder characterised by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …
被引用次数：121 相关文章

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema… - Journal of …, 2007 - researchinformation.amsterdamumc …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised
by growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …
[HTML] nih.gov

[HTML][HTML] Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema, F Papadia… - Journal of Medical …, 2007 - ncbi.nlm.nih.gov
Background Rubinstein–Taybi syndrome (RSTS) is a congenital disorder characterised by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …
[PDF] researchgate.net

[PDF][PDF] Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema, F Papadia… - J Med …, 2007 - researchgate.net
Background: Rubinstein–Taybi syndrome (RSTS) is a congenital disorder characterised by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema, F Papadia… - Journal of Medical …, 2007 - search.proquest.com
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema, F Papadia… - Journal of Medical …, 2007 - zora.uzh.ch
BACKGROUND Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised
by growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …

Genetic heterogeneity in Rubinstein-Taybi Syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema, F Papadia… - Journal of Medical …, 2007 - jmg.bmj.com
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterized by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema… - Journal of medical …, 2007 - pubmed.ncbi.nlm.nih.gov
Background Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …

[引用][C] Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D BARTHOLDI, JH ROELFSEMA… - Journal of medical …, 2007 - pascal-francis.inist.fr
Genetic heterogeneity in Rubinstein-Taybi syndrome : delineation of the phenotype of the
first patients carrying mutations in EP300 CNRS Inist Pascal-Francis CNRS Pascal and …

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

D Bartholdi, JH Roelfsema, F Papadia… - Journal of Medical …, 2007 - europepmc.org
Background Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …